Canonical Allele Identifier: CA2837995224

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22077577_22077578insA , CM000685.2:g.22077577_22077578insA	GRCh38
NC_000023.10:g.22095695_22095696insA , CM000685.1:g.22095695_22095696insA	GRCh37
NC_000023.9:g.22005616_22005617insA	NCBI36
NG_007563.2:g.49775_49776insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.964_965insA
ENST00000683214.1:n.646_647insA
ENST00000684143.1:c.535_536insA	ENSP00000508264.1:p.Trp179Ter
ENST00000684745.1:n.212_213insA
ENST00000379374.5:c.538_539insA MANE Select	ENSP00000368682.4:p.Trp180Ter
ENST00000379374.4:c.538_539insA	ENSP00000368682.4:p.Trp180Ter
NM_000444.5:c.538_539insA	NP_000435.3:p.Trp180Ter
NM_001282754.1:c.538_539insA	NP_001269683.1:p.Trp180Ter
XM_011545535.1:c.538_539insA	XP_011543837.1:p.Trp180Ter
XM_017029579.1:c.-93-12852_-93-12851insA	XP_016885068.1:n.-93-12852_-93-12851insA
XM_024452390.1:c.247_248insA	XP_024308158.1:p.Trp83Ter
XR_001755695.1:n.1217_1218insA
NM_000444.6:c.538_539insA MANE Select	NP_000435.3:p.Trp180Ter
NM_001282754.2:c.538_539insA	NP_001269683.1:p.Trp180Ter